title: Polymorphisms of β-defensin genes in Valle del Belice dairy sheep.
abstract: The aim of this work was to study β-defensin 1 (SBD1) and β-defensin 2 (SBD2) genes in Valle del Belice dairy sheep in order to identify polymorphisms that can be utilized as markers of the analyzed genes, and search for the functional effects and roles of the identified polymorphisms (variation of the amino acid sequence of the protein and stability of mRNA molecule). The study was conducted on 300 randomly selected animals belonging to four flocks. A total of seven SNPs were identified, two in SBD1 and five in SBD2. The two SNPs identified in SBD2 coding region, at position 1659 and position 1667, were non-synonymous, leading to amino acid changes in the protein product. Nevertheless, the functional effects predicted by the two SNPs demonstrated that amino acid substitutions may not have effect on β-defensin 2 protein function. Moreover, we demonstrated that SBD2 mutant sequence shows changes in mRNA secondary structure. These results suggest that identified SNPs could play a role in the modulation of the immune response.
authors.affiliation: Dipartimento DEMETRA-Sezione Produzioni Animali, Università di Palermo, Viale delle Scienze Parco d'Orleans, 90128 Palermo, Italy. giusi.monteleone@senfimizo.unipa.it
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Monteleone
authors.forename: Davide
authors.initials: D
authors.lastname: Calascibetta
authors.forename: Mariangela
authors.initials: M
authors.lastname: Scaturro
authors.forename: Paola
authors.initials: P
authors.lastname: Galluzzo
authors.forename: Marisa
authors.initials: M
authors.lastname: Palmeri
authors.forename: Valentina
authors.initials: V
authors.lastname: Riggio
authors.forename: Baldassare
authors.initials: B
authors.lastname: Portolano
mesh_terms: D000818:Animals; D001483:Base Sequence; D019295:Computational Biology; D003612:Dairying; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012333:RNA, Messenger / Q000737:chemistry / Q000235:genetics; D034561:Sheep, Domestic / Q000235:genetics*; D023083:beta-Defensins / Q000235:genetics*
chemical_list: D012333:RNA, Messenger; D023083:beta-Defensins